BioMarin Pharmaceutical and n-Lorem Foundation have entered an early-stage research collaboration and exclusive global licence agreement to develop an investigational antisense oligonucleotide (ASO) therapy for ReNU syndrome.
ReNU syndrome is a rare neurodevelopmental disorder that is caused by variants in the RNU4-2 gene.
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The agreement aims to address an estimated 75% of ReNU syndrome cases.
This syndrome was recognised as a distinct genetic disorder in 2024, following research led by Dr Nicola Whiffin at the University of Oxford’s Big Data Institute and Dr Ernest Turro from the Icahn School of Medicine at Mount Sinai.
The condition affects cognitive, language, and adaptive behavioural development.
BioMarin chief scientific officer Dr Kevin Eggan said: “For many families, a ReNU diagnosis can finally provide answers, but currently there are no approved medicines that address the underlying cause of the disease.
“By combining BioMarin’s expertise in genetic medicines with n-Lorem’s pioneering antisense capabilities, we aim to bring the first treatment option for people living with ReNU syndrome.”
As part of the early-stage collaboration, BioMarin and n-Lorem will carry out preclinical trials, with joint decisions on selection of the lead candidate for future clinical studies.
BioMarin will head the development of the medicine intended for broader use in the ReNU syndrome community.
n-Lorem founder, chairman and CEO Dr Stanley Crooke said: “Our commitment is to develop ASO medicines and, when we recognise the opportunity to support even more individuals, identify a partner that can advance our medicines to be commercially approved.”
Preparatory patient enrolment for individualised clinical trials of the ASO candidate is underway.
In April 2026, BioMarin completed its acquisition of Amicus Therapeutics for $14.50 per share in an all-cash deal for a total equity value of nearly $4.8bn.
